| Literature DB >> 2477346 |
R Marano1, P Soliveri, B Garavaglia, A Antonelli, F Girotti.
Abstract
A typical case of Refsum disease with high phytanic acid plasma levels is described. Two siblings showed some features but not the entire clinical spectrum of the disease. The unusual condition of the patient's father, a presumed heterozygotic carrier with characteristic bone abnormalities and a delayed onset retinopathy, is discussed.Entities:
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Year: 1989 PMID： 2477346 DOI： 10.1007/bf02334952
Source DB: PubMed Journal: Ital J Neurol Sci ISSN： 0392-0461